Canonical Allele Identifier: CA384958958
Gene: KRT1 HGNC NCBI

Linked Data

gnomAD v4: 12-52675397-G-T
MyVariant Identifiers: chr12:g.53069181G>T (hg19) chr12:g.52675397G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675397G>T , CM000674.2:g.52675397G>T GRCh38
NC_000012.11:g.53069181G>T , CM000674.1:g.53069181G>T GRCh37
NC_000012.10:g.51355448G>T NCBI36
NG_008364.1:g.10011C>A
NG_008364.2:g.10011C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1731C>A MANE Select ENSP00000252244.3:p.Ser577Arg
NM_006121.3:c.1731C>A NP_006112.3:p.Ser577Arg
NM_006121.4:c.1731C>A MANE Select NP_006112.3:p.Ser577Arg
Search 100 bp 5'
Search 100 bp 3'